Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

The activity of voltage-gated sodium channels has long been linked to disorders of neuronal
excitability such as epilepsy and chronic pain. Recent genetic studies have now expanded …

Individuals with severe, sporadic disorders of infantile onset represent an important class of
disease for which discovery of the underlying genetic architecture is not amenable to …

Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

The exact site of initiation and shape of action potentials vary among different neuronal
types. The reason for this variability is largely unknown, but the subunit composition, density …

Studies of genetic forms of epilepsy, chronic pain, and migraine caused by mutations in ion
channels have given crucial insights into molecular mechanisms, pathogenesis, and …

Summary Objective De novo SCN8A mutations have been reported in patients with epileptic
encephalopathy. Herein we report seven patients with de novo heterozygous SCN8A …

The sodium channel Nav1. 6, encoded by the gene SCN8A, is one of the major voltage-
gated channels in human brain. The sequences of sodium channels have been highly …

Inspiration is the inexorable active phase of breathing. The brainstem pre-Bötzinger complex
(preBötC) gives rise to inspiratory neural rhythm, but its underlying cellular and ionic bases …

Background: The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium
channel Nav1. 6, which is widely expressed in neurons of the CNS and PNS. Mutations in …